Canonical Allele Identifier: PA2573163074
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1437282
ClinVar RCV Id: RCV001948689 RCV004538656
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala979Thr
CA049439
NM_000138.5:c.2935G>A